Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascula...

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Main Authors: Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A. Tanteles
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2016/5208312

Internet

http://dx.doi.org/10.1155/2016/5208312

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